The De Novo Missense Mutation N117S in Skeletal Muscle Α‑actin�1 Causes a Mild Form of Congenital Nemaline Myopathy

Molecular Medicine Reports - Greece
doi 10.3892/mmr.2016.5429
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Spandidos Publications

Related search

A Rare Structural Myopathy: Nemaline Myopathy

Turk Pediatri Arsivi
Child HealthPediatricsPerinatology
2018English

A Novel De Novo Dominant Mutation inISCUassociated With Mitochondrial Myopathy

Journal of Medical Genetics
Genetics
2017English

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

European Journal of Human Genetics
Genetics
2000English

Fatal Nemaline Myopathy in Infancy

Canadian Journal of Neurological Sciences
MedicineNeurology
1984English

A Novel POMT2 Mutation Causes Mild Congenital Muscular Dystrophy With Normal Brain MRI

Brain and Development
Child HealthDevelopmental NeurosciencePerinatologyNeurologyMedicinePediatrics
2009English

Association of a Homozygous GCK Missense Mutation With Mild Diabetes

Molecular genetics & genomic medicine
GeneticsMolecular Biology
2019English

Chronic Alcohol Ingestion Exacerbates Skeletal Muscle Myopathy in HIV-1 Transgenic Rats

AIDS Research and Therapy
VirologyMolecular MedicinePharmacology
2011English

Statin-Induced Myopathy in Skeletal Muscle: The Role of Exercise

Journal of Lifestyle Medicine
2014English

Unreported RSK2 Missense Mutation in Two Male Sibs With an Unusually Mild Form of Coffin-Lowry Syndrome

Journal of Medical Genetics
Genetics
1999English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy